- Home
- Hematology
- Gaucher Disease (GD) With Elevated GlcSph Levels: A Case of Transition to Eliglustat
1mo3 min read
Medical Article
Introduction Gaucher disease (GD), a lysosomal storage disorder, results from the accumulation of glycosphingolipids due to deficient lysosomal glucocerebrosidase activity (1). GD arises from biallelic mutations in the glucosylceramidase β1 (GBA1) gene, resulting in defective acid β-glucosidase activity and the lysosomal accumulation of glucosylcer

Gaucher Disease (GD) With Elevated GlcSph Levels: A Case of Transition to Eliglustat
Similar Content

Pancytopenia, a rare presentation of hyperthyroidism
832 Reached2 Comments

Safe Ramadan Practices during COVID-19 - WHO Guidance
6561 Reached8 Comments3 Likes

How Physicians Should Manage Stress?
35340 Reached151 Comments202 Likes

Managing Meconium Aspiration Syndrome in Infants
9817 Reached7 Comments8 Likes

Infant with Congenital Diaphragmatic Hernia (CDH)
6991 Reached14 Comments8 Likes
